Collagen VI-related myopathies encompass a spectrum of clinical phenotypes that ranges from severe Ullrich congenital muscular dystrophy (UCMD) to milder Bethlem myopathy (BM). Patients with intermediate severity cannot be easily characterized in the first years of life. To characterize the clinical phenotype in a cohort of Spanish patients with genetic diagnosis of collagen VI-related myopathy. Retrospective descriptive study in patients with collagen VI-related myopathy. We evaluated the clinical evolution and genotype-phenotype correlations in patients with a collagen VI-related myopathy followed up in a reference neuromuscular center.

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